Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders

Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty‐two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disord...

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Veröffentlicht in:American journal of medical genetics. Part A 2017-06, Vol.173 (6), p.1649-1655
Hauptverfasser: Barone, Rita, Fichera, Marco, De Grandi, Mariaclara, Battaglia, Marta, Lo Faro, Valeria, Mattina, Teresa, Rizzo, Renata
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Sprache:eng
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